Entity Details

Primary name GLT12_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IXK2
EntryNameGLT12_HUMAN
FullNamePolypeptide N-acetylgalactosaminyltransferase 12
TaxID9606
Evidenceevidence at protein level
Length581
SequenceStatuscomplete
DateCreated2004-08-16
DateModified2021-06-02

Ontological Relatives

GenesGALNT12

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity
GO:0005794 Golgi apparatus
GO:0016021 integral component of membrane
GO:0016266 O-glycan processing
GO:0030246 carbohydrate binding
GO:0046872 metal ion binding

Subcellular Location

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Subcellular Location
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR000772 Ricin B, lectin domainDomainDomain
IPR001173 Glycosyltransferase 2-likeDomainDomain
IPR029044 Nucleotide-diphospho-sugar transferasesFamilyHomologous superfamily
IPR035992 Ricin B-like lectinsFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
608812 OMIMColorectal cancer 1 (CRCS1)A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Disease susceptibility is associated with variants affecting the gene represented in this entry. The role of GALNT12 in colon cancer susceptibility is however subject to discussion: studies on 103 probants with colorectal cancer 1 (CRCS1) suggest that it does not act as a major contributor of CRCS1 (PubMed:24115450).